Central Core Myopathy

This is a rare genetic neuromuscular disease, which belongs to the family of congenital myopathies, mainly due to mutation in RYR1 gene. It is mainly inherited in an autosomal dominant pattern, although there are autosomal recessive cases, which are even more serious. Of course, the case of de novo mutations, without a family history, is not excluded.

Symptoms

It is presented in infancy, with subtle infants, muscle weakness, mainly in the muscles near torso such as shoulders, pelvis, upper parts of arms and feet and skeletal abnormalities such as scoliosis and kyphosis. There may be milestone delay. There is often muscle weakness in the facial muscles, but there is usually no effect on the eyelid muscles, which distinguishes this myopathy from the rest. In addition, hip and knee dislocation occurs, even in neonates, muscular contractures, mainly in the Achilles tendon, flat-throat or a very large arch in the heel. If it occurs during embryonic life, then there is stillness, hypotonia, muscle fibrosis (congenital arthrogryrosis) and severe respiratory problems.

It is directly related to malignant hyperthermia, another autosomal dominant disorder, which is triggered by administration of certain anesthetic drugs. Then there is muscle stiffness, hypertension, high carbon monoxide values ​​in the blood and exhaled air, sudden tachycardia, sudden darkness, cyanosis and deferred hyperthermia. If not treated directly, internal bleeding is induced with brain dysfunction, muscle degeneration, renal and heart failure.

Generally there is heterogeneity in the symptoms, which may be so mild that they may not even be perceived.

Diagnosis

Blood tests are performed to determine the CK enzyme, which is usually normal or slightly high, clinical tests by specialists, reports of personal and family history since it is inherited, muscle biopsy, where very characteristic lesions in the muscles and other specific nerve tests.

Management

There is no cure, but treatment of each symptom to prevent complications. That is, monitoring and counseling by many healthcare professionals is required, depending on the symptoms. It is recommended to use special devices for proper body and head position, specific exercises and stretches to maintain muscle function and strength, and to avoid seizures. Respiratory support and use of special feeding tubes, where and when this is deemed necessary, and use of special orthopedic devices and interventions for the correction of orthopedic complications such as scoliosis.

For the Standards of care you may visit the following article: https://drive.google.com/file/d/11iOxRi9jCtlNEXp9ihHhTKJJgZGUrIe8/view?usp=sharing

Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/264/idiopathic-inflammatory-myopathies/ and https://clinicaltrials.gov/ct2/home

References

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